{"_buckets": {"deposit": "e3064424-122a-4f81-aa5b-37d96d608509"}, "_deposit": {"id": "18215", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "18215"}, "status": "published"}, "_oai": {"id": "oai:tsukuba.repo.nii.ac.jp:00018215"}, "item_5_biblio_info_6": {"attribute_name": "\u66f8\u8a8c\u60c5\u5831", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2008-07", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "7", "bibliographicPageEnd": "621", "bibliographicPageStart": "615", "bibliographicVolumeNumber": "53", "bibliographic_titles": [{"bibliographic_title": "Journal of human genetics"}]}]}, "item_5_creator_3": {"attribute_name": "\u8457\u8005\u5225\u540d", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "\u5927\u585a, \u85e4\u7537"}], "nameIdentifiers": [{"nameIdentifier": "65172", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "\u6709\u6ce2, \u5fe0\u96c4"}], "nameIdentifiers": [{"nameIdentifier": "191", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "\u91ce\u53e3, \u60e0\u7f8e\u5b50"}], "nameIdentifiers": [{"nameIdentifier": "369", "nameIdentifierScheme": "WEKO"}, {"nameIdentifier": "40344882", "nameIdentifierScheme": "e-Rad", "nameIdentifierURI": "https://nrid.nii.ac.jp/ja/nrid/1000040344882"}, {"nameIdentifier": "0000002344", "nameIdentifierScheme": "\u7b51\u6ce2\u5927\u5b66\u7814\u7a76\u8005\u7dcf\u89a7", "nameIdentifierURI": "http://trios.tsukuba.ac.jp/researcher/0000002344"}]}]}, "item_5_description_14": {"attribute_name": "\u30d5\u30a9\u30fc\u30de\u30c3\u30c8", "attribute_value_mlt": [{"subitem_description": "application/pdf", "subitem_description_type": "Other"}]}, "item_5_description_4": {"attribute_name": "\u6284\u9332", "attribute_value_mlt": [{"subitem_description": "Filaggrin (FLG) plays an important role in the barrier function of the skin. Several loss-of-function mutations in the FLG gene have been identified in patients with ichthyosis vulgaris, and these null mutations are associated with atopic dermatitis (AD) development. In this study, we examined tag single nucleotide polymorphisms (tSNPs) and null mutations in FLG for possible associations with AD and atopic phenotypes in a Japanese population. Transmission disequilibrium test of 105 AD families showed that the null allele of the S2554X variant of FLG tended to be overtransmitted to AD-affected offspring; however, the P value did not reach statistical significance. In a case\u2013control comparison of 376 AD cases and 923 nonallergic controls, the null allele of S2554X was significantly associated with AD (P = 0.0012), and the association was strengthened in subjects with AD alone (P = 0.000024). We found that 3321delA and S2554X were also associated with elevated levels of immunoglobulin E (IgE). Combined null mutation carriers were observed more in AD patients and in subjects with high IgE than in control subjects. The combined P value for the family and case\u2013control data was significant for the S2554X and combined null mutations. Our data further support the importance of FLG in AD development.", "subitem_description_type": "Abstract"}]}, "item_5_identifier_34": {"attribute_name": "URI", "attribute_value_mlt": [{"subitem_identifier_type": "HDL", "subitem_identifier_uri": "http://hdl.handle.net/2241/103681"}]}, "item_5_publisher_27": {"attribute_name": "\u51fa\u7248\u8005", "attribute_value_mlt": [{"subitem_publisher": "Springer Japan"}]}, "item_5_relation_10": {"attribute_name": "PubMed\u756a\u53f7", "attribute_value_mlt": [{"subitem_relation_type_id": {"subitem_relation_type_id_text": "18521703", "subitem_relation_type_select": "PMID"}}]}, "item_5_relation_11": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_type_id": {"subitem_relation_type_id_text": "10.1007/s10038-008-0293-z", "subitem_relation_type_select": "DOI"}}]}, "item_5_rights_12": {"attribute_name": "\u6a29\u5229", "attribute_value_mlt": [{"subitem_rights": "\u00a9 The Japan Society of Human Genetics and Springer 2008"}, 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"application/pdf", "size": 968000, "url": {"label": "JHG_53-7.pdf", "url": "https://tsukuba.repo.nii.ac.jp/record/18215/files/JHG_53-7.pdf"}, "version_id": "dc8ba36f-ea20-43c3-bf05-4248b8428690"}]}, "item_language": {"attribute_name": "\u8a00\u8a9e", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "\u8cc7\u6e90\u30bf\u30a4\u30d7", "attribute_value_mlt": [{"resourcetype": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case\u2013control study", "item_titles": {"attribute_name": "\u30bf\u30a4\u30c8\u30eb", "attribute_value_mlt": [{"subitem_title": "Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case\u2013control study"}]}, "item_type_id": "5", "owner": "1", "path": ["2780/938", "2871/2876/936", "2871/2876/920", "3/62/5592/1080"], "permalink_uri": "http://hdl.handle.net/2241/103681", "pubdate": {"attribute_name": "\u516c\u958b\u65e5", "attribute_name_i18n": "\u516c\u958b\u65e5", "attribute_value": "2009-09-25"}, "publish_date": "2009-09-25", "publish_status": "0", "recid": "18215", "relation": {}, "relation_version_is_last": true, "title": ["Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case\u2013control study"], "weko_shared_id": 5}